Variant report

Variant	esv3380588
Chromosome Location	chr8:48296722-48297120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48296378..48299348-chr8:48301045..48303894,3	K562	blood:
2	chr8:48296590..48299380-chr8:48299721..48303188,4	MCF-7	breast:
3	chr8:48291685..48296788-chr8:48648654..48651770,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368679725	chr8:48296754-48296755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72646306	chr8:48296759-48296760	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78388018	chr8:48296826-48296827	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575331673	chr8:48296850-48296851	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377189887	chr8:48296851-48296852	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543107092	chr8:48296861-48296862	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554898877	chr8:48296867-48296868	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573362891	chr8:48296916-48296917	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6981604	chr8:48296930-48296931	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565563765	chr8:48296942-48296943	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532656960	chr8:48296991-48296992	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544608376	chr8:48297023-48297024	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543090465	chr8:48297031-48297032	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540776084	chr8:48297062-48297063	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80343235	chr8:48297116-48297117	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
8	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
10	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:48282400-48300200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:48282800-48299800	Weak transcription	Dnd41	blood
16	chr8:48283600-48297200	Weak transcription	Right Atrium	heart
17	chr8:48283800-48300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:48284000-48300400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:48284200-48300200	Weak transcription	Primary B cells from cord blood	blood
20	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:48288600-48296800	Enhancers	Stomach Mucosa	stomach
22	chr8:48289200-48297200	Weak transcription	K562	blood
23	chr8:48290400-48297200	Weak transcription	Left Ventricle	heart
24	chr8:48290400-48299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:48290800-48322200	Weak transcription	Liver	Liver
27	chr8:48290800-48347400	Weak transcription	HepG2	liver
28	chr8:48291400-48310000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:48291800-48309600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:48292000-48310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:48292200-48296800	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:48293000-48299600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
34	chr8:48293200-48297200	Weak transcription	Psoas Muscle	Psoas
35	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:48294000-48297400	Weak transcription	Fetal Kidney	kidney
37	chr8:48294000-48300800	Enhancers	HMEC	breast
38	chr8:48294200-48298400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:48294200-48299200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:48294400-48297200	Weak transcription	Placenta	Placenta
41	chr8:48294400-48299000	Weak transcription	Gastric	stomach
42	chr8:48294400-48299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:48294400-48309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:48294400-48309600	Weak transcription	Fetal Intestine Small	intestine
45	chr8:48294600-48296800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:48294800-48309200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:48295200-48296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:48295200-48298600	Enhancers	Osteobl	bone
49	chr8:48295400-48297600	Enhancers	Small Intestine	intestine
50	chr8:48295400-48298600	Enhancers	HSMM	muscle

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